Mom:
Catherine - carrier with mildly low platelets especially during pregnancy
Son: Quinn, who is now 5
years old with XLT. Platelet counts do not generally exceed 20K on a typical
day and drop to 8-15K with any viral illness; Quinn is generally in good health
but has extreme bruising and has had several nosebleeds, although the bleeding
was short lived. We are strongly considering splenectomy. Quinn has had almost
30 platelet transfusions to date. Quinn is a very active, athletic, and
energetic young boy. He
will enter regular kindergarten this fall with a 504 Accommodation Plan which
outlines specific accommodations he will need to remain safe and healthy to
include the use of a helmet during physical play.
Location: Connecticut-Fairfield County
Family History is
extensive. Paternal grandmother was a carrier who passed mutation to both of
her sons, my dad and uncle. My uncle passed away in 1981 from sepsis due to
complications of WAS (he did not have a spleen). My dad is 72 and alive and
living a full life, but has suffered many illnesses. Both he and my uncle had their spleens
removed in their late teens. They were thought to have ITP. Both suffered bruising and frequent
nosebleeds. My dad suffered several bouts of bacterial meningitis as a young
man after his spleen was removed, but survived and takes antibiotics
daily. My grandmother's
brother was also believed to have been affected with WAS, as was my dad's first
cousin (now deceased) and his grandson (18 y.o. and splenectomized). I, my
sister, and my first cousin are all obligate carriers. Quinn has one sister,
Lucia, age 2, who is not a carrier and is also not an HLA match for BMT.
Physicians: Dr. Candotti
at NIH, Dr. Ochs (identified family mutation), Dr. Beardsley (Hematologist at
Yale New Haven), Dr. Feulihan (Immunologist at Yale, now at Northwestern), Dr.
Bussel at Cornell (looking into Eltrombopag for us which is a platelet booster
typically used with ITP patients), Dr.
Small (Sloan Kettering met with us about BMT), .
To contact Catherine or Walter
please go to the Discussion Forum.
